Short Description

NGS genetic DNA test detecets for variant and mutation detection in LTBP2 gene for Glaucoma, primary type 3D

PreTest Information

Clinical History of Patient who is going for LTBP2 Gene Glaucoma, primary type 3D NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LTBP2 Gene Glaucoma, primary type 3D NGS Genetic DNA Test gene LTBP2

Detail Description

LTBP2 Gene Glaucoma: Symptoms, Diagnosis and Cost of Primary Type 3D NGS Genetic DNA Test in India

Glaucoma is a group of eye conditions that cause damage to the optic nerve, leading to vision loss and blindness. One of the types of glaucoma is primary congenital glaucoma (PCG), which is a rare condition that affects infants and young children.

Research has shown that mutations in the LTBP2 gene are responsible for primary type 3D PCG. The LTBP2 gene provides instructions for making a protein that is involved in the development and maintenance of the eye’s drainage system. Mutations in this gene can disrupt the normal functioning of the drainage system, leading to increased pressure in the eye and damage to the optic nerve.

Symptoms of LTBP2 Gene Glaucoma

The symptoms of LTBP2 gene glaucoma may include:

• Cloudy or hazy cornea
• Increased sensitivity to light
• Excessive tearing
• Blepharospasm (involuntary blinking or spasm of the eyelids)
• Enlargement of one or both eyes
• Redness of the eyes
• Difficulty seeing objects in the distance
• Poor vision in low light conditions

It is important to note that not all children with LTBP2 gene mutations will develop glaucoma, and not all children with glaucoma will have LTBP2 gene mutations.

Diagnosis of LTBP2 Gene Glaucoma

Early diagnosis and treatment of LTBP2 gene glaucoma is crucial to prevent vision loss and blindness. An eye doctor can diagnose glaucoma through a comprehensive eye exam, which may include:

• Measurement of the intraocular pressure (IOP)
• Examination of the optic nerve
• Measurement of the corneal thickness
• Visual field testing
• Genetic testing

Genetic testing can confirm the presence of LTBP2 gene mutations in children with suspected primary type 3D PCG. This can help guide treatment decisions and provide valuable information for family members who may be at risk of passing on the mutation to their children.

Cost of Primary Type 3D NGS Genetic DNA Test in India

The cost of primary type 3D NGS genetic DNA test for LTBP2 gene glaucoma in India is approximately INR 20,000. This test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the LTBP2 gene and detect mutations that may be associated with primary type 3D PCG.

While the cost of genetic testing may seem high, it is important to consider the potential long-term benefits of early diagnosis and treatment. Early intervention can help prevent vision loss and blindness, and may also improve quality of life for affected individuals and their families.

Conclusion

LTBP2 gene glaucoma is a rare type of primary congenital glaucoma that can lead to vision loss and blindness. Genetic testing can confirm the presence of LTBP2 gene mutations and guide treatment decisions. The cost of primary type 3D NGS genetic DNA test for LTBP2 gene glaucoma in India is approximately INR 20,000. Early diagnosis and treatment are crucial to prevent vision loss and improve quality of life for affected individuals and their families.

At DNA Labs India, we provide reliable and accurate genetic testing services for a variety of conditions, including LTBP2 gene glaucoma. Our team of experts is committed to providing personalized care and support to our patients and their families. Contact us today to learn more about our services and how we can help you.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for LTBP2 Gene Glaucoma, primary type 3D NGS Genetic DNA Test